Galactosaemia

Descrição

Year 2 (Inborn Errors of Metabolism) FlashCards sobre Galactosaemia, criado por gina_evans0312 em 05-04-2014.
gina_evans0312
FlashCards por gina_evans0312, atualizado more than 1 year ago
gina_evans0312
Criado por gina_evans0312 mais de 10 anos atrás
216
0

Resumo de Recurso

Questão Responda
Galactokinase Reaction Galactose + ATP --> Gal-1-P + ADP
Galactokinase Issue Galactose accumulates in the blood and is excreted in teh urine
Galactokinase- Symptoms Vomiting & diarrhea on ingestion, enlarged liver
Galactokinase Deficiency- Severe Symptoms Cateract formation (galactose damages blood vessels) and nerve damage, leading to dehydration, jaundice & cirrhosis
Galactose-1-Phosphatase Reaction Galactose-1-P + UDP-Glucose --> UDP-Gal + Glu-1-P
Main Issue with Galactose-1-P Deficiency Depletes free phosphate & inhibits glucokinase
Galactose-1-Phosphatase Deficiency- Galacitol Increases galacitol formation which leads to jaundice
Treatment Galactose free diet i.e. artificial milk

Semelhante

Von Gierkes Disease
gina_evans0312
Congenital Phorphyria
gina_evans0312
Glucose-6-Phosphate Dehydrogenase
gina_evans0312
Head, Neck and Back 2nd Sem- Anatomy 2nd Year- PMU
Med Student
Respiratory System 2nd Year PMU Anatomy
Med Student
Respiratory System Year 2/
Sole C
Fiction or NonFiction Year 1
Judy Stephenson
Fiction or NonFiction Year 2
Judy Stephenson
Anatomy Year 2 - Head, Neck and Back
Sole C
Lipid Structure
gina_evans0312